Chromosome 5q deletion syndrome
| Chromosome 5q deletion syndrome | |
|---|---|
| Other names | Chromosome 5q monosomy, 5q- syndrome |
 | |
| Photomicrograph of bone marrow showing abnormal mononuclear megakaryocytes typical of 5q- syndrome | |
| Specialty | Hematology  |
Chromosome 5q deletion syndrome is an acquired, hematological disorder characterized by loss of part of the long arm (
q arm, band 5q33.1) of human chromosome 5 in bone marrow myelocyte cells. This chromosome abnormality is most commonly associated with the myelodysplastic syndrome
.
It should not be confused with "partial trisomy 5q", though both conditions have been observed in the same family.[1] This should not be confused with the
cri du chat (5p deletion) syndrome which is a deletion of the short arm of the 5th chromosome.[citation needed
] Diagnosis is achieved through marrow biopsy.
Presentation
The 5q-syndrome is characterized by
thrombocytosis, erythroblastopenia, megakaryocyte hyperplasia with nuclear hypolobation, and an isolated interstitial deletion of chromosome 5. The 5q- syndrome is found predominantly in females of advanced age.[2]
Causes
Several
Histology
This syndrome affects
megakaryocytes. They are more numerous than usual, small and mononuclear. There may be accompanying erythroid hypoplasia in the bone marrow.[6]
Treatment
FDA approved for red blood cell (RBC) transfusion-dependent anemia due to low or intermediate-1 (int-1) risk myelodysplastic syndrome (MDS) associated with chromosome 5q deletion with or without additional cytogenetic abnormalities.[8] There are several possible mechanisms that link the haploinsufficiency molecular lesions with lenalidomide sensitivity.[4][9]
Prognosis
Most affected people have a stable clinical course but are often transfusion dependent.[citation needed]
References
- S2CID 33815922.
- .
- PMID 18202658.
- ^ PMID 25512719.
- S2CID 7987486.
- ^ Online Mendelian Inheritance in Man (OMIM): 5q- syndrome - 153550
- PMID 17021321.
- PMID 17893227.
- S2CID 38251104.)
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External links
- 5q- syndrome at NIH's Office of Rare Diseases